{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA137352", "communityStandardTitle": [ "NM_022124.6(CDH23):c.3074G>A (p.Gly1025Asp)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=55073[alleleid]", "alleleId": 55073, "preferredName": "NM_022124.6(CDH23):c.3074G>A (p.Gly1025Asp)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/45908", "RCV": [ "RCV000039141", "RCV000839197", "RCV001105453", "RCV001105454", "RCV001272552", "RCV001328026", "RCV004534828" ], "variationId": 45908 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/10-73466774-G-A", "id": "10-73466774-G-A", "variant": "10:73466774 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.73466774G>A?assembly=hg19", "id": "chr10:g.73466774G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.71707017G>A?assembly=hg38", "id": "chr10:g.71707017G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/143179070", "rs": 143179070 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-73466774-G-A?dataset=gnomad_r2_1", "id": "10-73466774-G-A", "variant": "10:73466774 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-71707017-G-A?dataset=gnomad_r3", "id": "10-71707017-G-A", "variant": "10:71707017 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-71707017-G-A?dataset=gnomad_r4", "id": "10-71707017-G-A", "variant": "10:71707017 G / A" } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 71707017, "referenceAllele": "G", "start": 71707016 } ], "hgvs": [ "NC_000010.11:g.71707017G>A", "CM000672.2:g.71707017G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 73466774, "referenceAllele": "G", "start": 73466773 } ], "hgvs": [ "NC_000010.10:g.73466774G>A", "CM000672.1:g.73466774G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 73136780, "referenceAllele": "G", "start": 73136779 } ], "hgvs": [ "NC_000010.9:g.73136780G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "A", "end": 315071, "referenceAllele": "G", "start": 315070 } ], "hgvs": [ "NG_008835.1:g.315071G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001230" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3478, "referenceAllele": "G", "start": 3477 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000224721.12:c.3074G>A" ], "proteinEffect": { "hgvs": "ENSP00000224721.9:p.Gly1025Asp", "hgvsWellDefined": "ENSP00000224721.9:p.Gly1025Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS740637", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000224721.12:c.3074G>A" }, "RefSeq": { "hgvs": "NM_022124.6:c.3074G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000224721.9:p.Gly1025Asp" }, "RefSeq": { "hgvs": "NP_071407.4:p.Gly1025Asp" } } } }, { "coordinates": [ { "allele": "A", "end": 3464, "referenceAllele": "G", "start": 3463 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000398809.9:c.3074G>A" ], "proteinEffect": { "hgvs": "ENSP00000381789.5:p.Gly1025Asp", "hgvsWellDefined": "ENSP00000381789.5:p.Gly1025Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS753788" }, { "coordinates": [ { "allele": "A", "end": 3074, "referenceAllele": "G", "start": 3073 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000442677.4:c.3074G>A" ], "proteinEffect": { "hgvs": "ENSP00000388894.3:p.Gly1025Asp", "hgvsWellDefined": "ENSP00000388894.3:p.Gly1025Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS755918" }, { "coordinates": [ { "allele": "A", "end": 2505, "referenceAllele": "G", "start": 2504 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000466757.8:c.2505G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS756880" }, { "coordinates": [ { "allele": "A", "end": 3479, "referenceAllele": "G", "start": 3478 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000224721.10:c.3089G>A" ], "proteinEffect": { "hgvs": "ENSP00000224721.8:p.Gly1030Asp", "hgvsWellDefined": "ENSP00000224721.8:p.Gly1030Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS248471" }, { "coordinates": [ { "allele": "A", "end": 3461, "referenceAllele": "G", "start": 3460 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000299366.11:c.3074G>A" ], "proteinEffect": { "hgvs": "ENSP00000299366.8:p.Gly1025Asp", "hgvsWellDefined": "ENSP00000299366.8:p.Gly1025Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS254714" }, { "coordinates": [ { "allele": "A", "end": 3464, "referenceAllele": "G", "start": 3463 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000398809.8:c.3074G>A" ], "proteinEffect": { "hgvs": "ENSP00000381789.5:p.Gly1025Asp", "hgvsWellDefined": "ENSP00000381789.5:p.Gly1025Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS278430" }, { "coordinates": [ { "allele": "A", "end": 1849, "referenceAllele": "G", "start": 1848 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000442677.3:c.1849G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS296989" }, { "coordinates": [ { "allele": "A", "end": 2505, "referenceAllele": "G", "start": 2504 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000466757.7:c.2505G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS310034" }, { "coordinates": [ { "allele": "A", "end": 3436, "referenceAllele": "G", "start": 3435 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000616684.4:c.3074G>A" ], "proteinEffect": { "hgvs": "ENSP00000482036.2:p.Gly1025Asp", "hgvsWellDefined": "ENSP00000482036.2:p.Gly1025Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS403156" }, { "coordinates": [ { "allele": "A", "end": 3464, "referenceAllele": "G", "start": 3463 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000622827.4:c.3074G>A" ], "proteinEffect": { "hgvs": "ENSP00000483211.1:p.Gly1025Asp", "hgvsWellDefined": "ENSP00000483211.1:p.Gly1025Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS405902" }, { "@id": "http://reg.genome.network/allele/PA2826092664", "coordinates": [ { "allele": "A", "end": 3464, "referenceAllele": "G", "start": 3463 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_001171930.1:c.3074G>A" ], "proteinEffect": { "hgvs": "NP_001165401.1:p.Gly1025Asp", "hgvsWellDefined": "NP_001165401.1:p.Gly1025Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS015391" }, { "@id": "http://reg.genome.network/allele/PA137353", "coordinates": [ { "allele": "A", "end": 3464, "referenceAllele": "G", "start": 3463 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_001171931.1:c.3074G>A" ], "proteinEffect": { "hgvs": "NP_001165402.1:p.Gly1025Asp", "hgvsWellDefined": "NP_001165402.1:p.Gly1025Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS015392" }, { "@id": "http://reg.genome.network/allele/PA137354", "coordinates": [ { "allele": "A", "end": 3464, "referenceAllele": "G", "start": 3463 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_022124.5:c.3074G>A" ], "proteinEffect": { "hgvs": "NP_071407.4:p.Gly1025Asp", "hgvsWellDefined": "NP_071407.4:p.Gly1025Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS037218" }, { "coordinates": [ { "allele": "A", "end": 3512, "referenceAllele": "G", "start": 3511 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_006717940.2:c.3269G>A" ], "proteinEffect": { "hgvs": "XP_006718003.1:p.Gly1090Asp", "hgvsWellDefined": "XP_006718003.1:p.Gly1090Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS072393" }, { "coordinates": [ { "allele": "A", "end": 3446, "referenceAllele": "G", "start": 3445 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_006717942.2:c.3203G>A" ], "proteinEffect": { "hgvs": "XP_006718005.1:p.Gly1068Asp", "hgvsWellDefined": "XP_006718005.1:p.Gly1068Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS072394" }, { "coordinates": [ { "allele": "A", "end": 3512, "referenceAllele": "G", "start": 3511 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540039.1:c.3269G>A" ], "proteinEffect": { "hgvs": "XP_011538341.1:p.Gly1090Asp", "hgvsWellDefined": "XP_011538341.1:p.Gly1090Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS106989" }, { "coordinates": [ { "allele": "A", "end": 3506, "referenceAllele": "G", "start": 3505 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540040.1:c.3263G>A" ], "proteinEffect": { "hgvs": "XP_011538342.1:p.Gly1088Asp", "hgvsWellDefined": "XP_011538342.1:p.Gly1088Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS106990" }, { "coordinates": [ { "allele": "A", "end": 3464, "referenceAllele": "G", "start": 3463 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540041.1:c.3209G>A" ], "proteinEffect": { "hgvs": "XP_011538343.1:p.Gly1070Asp", "hgvsWellDefined": "XP_011538343.1:p.Gly1070Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS106991" }, { "coordinates": [ { "allele": "A", "end": 3512, "referenceAllele": "G", "start": 3511 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540042.1:c.3269G>A" ], "proteinEffect": { "hgvs": "XP_011538344.1:p.Gly1090Asp", "hgvsWellDefined": "XP_011538344.1:p.Gly1090Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS106992" }, { "coordinates": [ { "allele": "A", "end": 3512, "referenceAllele": "G", "start": 3511 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540043.1:c.3269G>A" ], "proteinEffect": { "hgvs": "XP_011538345.1:p.Gly1090Asp", "hgvsWellDefined": "XP_011538345.1:p.Gly1090Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS106993" }, { "coordinates": [ { "allele": "A", "end": 3196, "referenceAllele": "G", "start": 3195 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540044.1:c.3134G>A" ], "proteinEffect": { "hgvs": "XP_011538346.1:p.Gly1045Asp", "hgvsWellDefined": "XP_011538346.1:p.Gly1045Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS106994" }, { "coordinates": [ { "allele": "A", "end": 3512, "referenceAllele": "G", "start": 3511 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540045.1:c.3269G>A" ], "proteinEffect": { "hgvs": "XP_011538347.1:p.Gly1090Asp", "hgvsWellDefined": "XP_011538347.1:p.Gly1090Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS106995" }, { "coordinates": [ { "allele": "A", "end": 2934, "referenceAllele": "G", "start": 2933 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540046.1:c.2729G>A" ], "proteinEffect": { "hgvs": "XP_011538348.1:p.Gly910Asp", "hgvsWellDefined": "XP_011538348.1:p.Gly910Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS106996" }, { "coordinates": [ { "allele": "A", "end": 2102, "referenceAllele": "G", "start": 2101 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540047.1:c.2087G>A" ], "proteinEffect": { "hgvs": "XP_011538349.1:p.Gly696Asp", "hgvsWellDefined": "XP_011538349.1:p.Gly696Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS106997" }, { "coordinates": [ { "allele": "A", "end": 3512, "referenceAllele": "G", "start": 3511 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540048.1:c.3269G>A" ], "proteinEffect": { "hgvs": "XP_011538350.1:p.Gly1090Asp", "hgvsWellDefined": "XP_011538350.1:p.Gly1090Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS106998" }, { "coordinates": [ { "allele": "A", "end": 3512, "referenceAllele": "G", "start": 3511 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540049.1:c.3269G>A" ], "proteinEffect": { "hgvs": "XP_011538351.1:p.Gly1090Asp", "hgvsWellDefined": "XP_011538351.1:p.Gly1090Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS106999" }, { "coordinates": [ { "allele": "A", "end": 3512, "referenceAllele": "G", "start": 3511 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540050.1:c.3269G>A" ], "proteinEffect": { "hgvs": "XP_011538352.1:p.Gly1090Asp", "hgvsWellDefined": "XP_011538352.1:p.Gly1090Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS107000" }, { "coordinates": [ { "allele": "A", "end": 3512, "referenceAllele": "G", "start": 3511 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540051.1:c.3269G>A" ], "proteinEffect": { "hgvs": "XP_011538353.1:p.Gly1090Asp", "hgvsWellDefined": "XP_011538353.1:p.Gly1090Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS107001" }, { "coordinates": [ { "allele": "A", "end": 3512, "referenceAllele": "G", "start": 3511 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540053.1:c.3269G>A" ], "proteinEffect": { "hgvs": "XP_011538355.1:p.Gly1090Asp", "hgvsWellDefined": "XP_011538355.1:p.Gly1090Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS107003" }, { "coordinates": [ { "allele": "A", "end": 3464, "referenceAllele": "G", "start": 3463 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540054.1:c.3209G>A" ], "proteinEffect": { "hgvs": "XP_011538356.1:p.Gly1070Asp", "hgvsWellDefined": "XP_011538356.1:p.Gly1070Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS107004" }, { "coordinates": [ { "allele": "A", "end": 3512, "referenceAllele": "G", "start": 3511 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XR_945796.1:n.3512G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS139429" }, { "coordinates": [ { "allele": "T", "end": 82, "endIntronDirection": "+", "endIntronOffset": 1989, "referenceAllele": "C", "start": 82, "startIntronDirection": "+", "startIntronOffset": 1988 } ], "hgvs": [ "XR_946052.1:n.82+1989C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS139640" }, { "@id": "http://reg.genome.network/allele/PA2826092664", "coordinates": [ { "allele": "A", "end": 3478, "referenceAllele": "G", "start": 3477 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_001171930.2:c.3074G>A" ], "proteinEffect": { "hgvs": "NP_001165401.1:p.Gly1025Asp", "hgvsWellDefined": "NP_001165401.1:p.Gly1025Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS678723" }, { "@id": "http://reg.genome.network/allele/PA137353", "coordinates": [ { "allele": "A", "end": 3478, "referenceAllele": "G", "start": 3477 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_001171931.2:c.3074G>A" ], "proteinEffect": { "hgvs": "NP_001165402.1:p.Gly1025Asp", "hgvsWellDefined": "NP_001165402.1:p.Gly1025Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS678724" }, { "@id": "http://reg.genome.network/allele/PA137354", "coordinates": [ { "allele": "A", "end": 3478, "referenceAllele": "G", "start": 3477 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_022124.6:c.3074G>A" ], "proteinEffect": { "hgvs": "NP_071407.4:p.Gly1025Asp", "hgvsWellDefined": "NP_071407.4:p.Gly1025Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS698509", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000224721.12:c.3074G>A" }, "RefSeq": { "hgvs": "NM_022124.6:c.3074G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000224721.9:p.Gly1025Asp" }, "RefSeq": { "hgvs": "NP_071407.4:p.Gly1025Asp" } } } } ], "type": "nucleotide" }